1. Fragile X Syndrome
Sanjay Dick Developmental Biology 551 Eastern Mennonite University Fall 2015

2. Fragile X Syndrome
Fragile X - a genetic disorder that results in abnormal mental and physical characteristics.
Clinical signs
Mental impairments
Delayed onset of speech (2 yrs)
Social anxiety
ADD
Seizures (15% M; 5% F)
Physical abnormalities
Elongated face with prominent jaw
Increased ear size
Overly flexible joints
Enlarged testicles
Incidence
Males (more common)
1/4000
Females
1/8000

3. Fragile X Syndrome
Mutation in Fragile Mental Retardation 1 (FMR1) gene
Instructions for FMR1 protein
Proteins
Synaptic development
Cause
CGG repeat
CGGx5  CGGx40
CGG > 200
Management
No cure
Early intervention is crucial

4. Fragile X Syndrome - References
Genetics home reference. Fragile X syndrome. Retrieved from Sept. 10, 2015.
National coalition for health professional education in genetics. Management. Retrieved from
&view=article&id=497&Itemid=730. Sept. 10, 2015.
National fragile X foundation. Fragile X syndrome. Retrieved from Sept. 10, 2015.